PMID: 8344720

Powis SH, Rosenberg WM, Hall M, Mockridge I, Tonks S, Ivinson A, Ciclitira PJ, Jewell DP, Lanchbury JS, Bell JI, et al.
TAP1 and TAP2 polymorphism in coeliac disease.
Immunogenetics. 1993;38(5):345-50., [PubMed]
Sentences
No. Mutations Sentence Comment
37 ABCB3 p.Val379Ile
X
ABCB3 p.Val379Ile 8344720:37:120
status: NEW
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ABCB3 p.Thr665Ala
X
ABCB3 p.Thr665Ala 8344720:37:497
status: NEW
view ABCB3 p.Thr665Ala details
ABCB3 p.Ala565Thr
X
ABCB3 p.Ala565Thr 8344720:37:311
status: NEW
view ABCB3 p.Ala565Thr details
 TAP polymorphism Controls CD (n = 69) (n = 81) n % n % TAP2 position 379: Phenotype frequencies Val-379/Val-379 43 62.3 Val-379/Ile-379 25 36.2 Ile-379/Ile-379 1 1.4 Val-379 68 98.6 Ile-379 26 37.7 Gene frequencies Val-379 111 80.4 Ile-379 27 19.6 TAP2 position 565: Phenotype frequencies Ala-565/Ala-565 49 71 Ala-565/Thr-565 20 29 Thr-565/Thr-565 0 0 Ala-565 69 100 Thr-565 20 29 Gene frequencies Ala-565 118 85.5 Thr-565 20 14.5 TAP2 position 665: Phenotype frequencies Thr-665/Thr-665 39 56.5 Thr-665/Ala-665 27 39.1 Ala-665/Ala-665 3 4.3 Thr-665 66 95.7 Ala-665 30 43.5 Gene frequencies Thr-665 105 76.1 Ala-665 33 23.9 TAP1 position 333: Phenotype frequencies Ile-333/Ile-333 51 73.9 Ile-333/Val-333 16 23.2 Val-333/Val-333 2 2.9 Iie-333 67 97.1 Val-333 18 26.1 Gene frequencies Ile-333 118 85.5 Val-333 20 14.5 TAP1 position 637: Phenotype frequencies Asp-637/Asp-637 54 78.3 Asp-637/Gly-637 13 18.8 Gly-637/Gly-637 2 2.9 Asp-637 67 97.1 Gly-637 15 21.7 Gene frequencies Asp-637 121 87.7 Gly-637 17 12.3 74 91.4 * 7 8.6 * 0 0 81 100 7 8.6 * 155 95.7 * 7 4.3 * 75 92.6 * 6 7.4 * 0 0 81 100 6 7.4 * 156 96.3 * 6 3.7 * 69 85.2 * 10 12.3 * 2 2.5 79 97.5 12 14.8 * 148 91.4 * 14 8.6 * 68 84 12 14.8 1 1.2 80 98.8 13 16 148 91.4 14 8.6 71 87.7 9 11.1 1 1.2 80 98.8 10 12.3 151 93.2 11 6.8 Chi-square or Fisher's exact test: *p <0.001. Login to comment 46 ABCB3 p.Ala565Thr
X
ABCB3 p.Ala565Thr 8344720:46:64
status: NEW
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 The remaining 13 individuals were typed as TAP2Val-379fIle-379, Ala-565/Thr-565, Thr-665/Thr-665 compound heterozygotes and could therefore be either TAP2A/TAP2Dor TAP2C/TAP2Eheterozygotes. Login to comment 63 ABCB2 p.Ile379Ala
X
ABCB2 p.Ile379Ala 8344720:63:182
status: NEW
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 On this basis we excluded only one typed individual from the analysis ofHLA matchedindividuals:a HLA-DR3-DQ2/-DR7-DQ2 control who typed TAP1Ile-333/Val-333Asp-637/Gly-637TAP2Val-379/Ile-379Ala-565/Thr-565Thr-665/Thr-665.No significantdifferenceswerefound betweenpatients andmatchedcontrols (Chi-squareor Fisher's exacttest). Login to comment